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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA136142
Gene: SOS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45364
ClinVar RCV Id:
RCV000038552
RCV000520887
RCV002453317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005624.2:p.Val117Gly
CA136140
NM_005633.4:c.350T>G